| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260950 |
| Start |
190060244:190060244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.565A>T |
| AA Mutation |
p.Ile189Phe(p.I189F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260950 |
| Start |
190060348:190060348(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.461C>T |
| AA Mutation |
p.Ala154Val(p.A154V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000260950 |
| Start |
190057599:190057599(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.787delA |
| AA Mutation |
p.Arg263AspfsTer24(p.R263Dfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |